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- Baron, Tomasz, et al.
(författare)
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Cardiac Imaging in Carcinoid Heart Disease
- 2021
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Ingår i: JACC Cardiovascular Imaging. - : American College of Cardiology. - 1936-878X .- 1876-7591. ; 14:11, s. 2240-2253
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Tidskriftsartikel (refereegranskat)abstract
- Carcinoid disease is caused by neuroendocrine tumors, most often located in the gut, and leads in approximately 20% of cases to specific, severe heart disease, most prominently affecting right-sided valves. If cardiac disease occurs, it determines the patient's prognosis more than local growth of the tumor. Surgical treatment of carcinoid-induced valve disease has been found to improve survival in observational studies. Cardiac imaging is crucial for both diagnosis and management of carcinoid heart disease; in the past, imaging was accomplished largely by echocardiography, but more recently, imaging for carcinoid heart disease has increasingly become multimodal and warrants awareness of the particular diagnostic challenges of this disease. This paper reviews the pathophysiology and manifestations of carcinoid heart disease in light of the different imaging modalities.
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- Bergsten, Johannes, et al.
(författare)
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A 33-year follow-up after valvular surgery for carcinoid heart disease
- 2022
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Ingår i: European Heart Journal Cardiovascular Imaging. - : Oxford University Press (OUP). - 2047-2404 .- 2047-2412. ; 23:4, s. 524-531
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: Valvular surgery has improved long-term prognosis in severe carcinoid heart disease (CaHD). Experience is limited and uncertainty remains about predictors for survival and strategy regarding single vs. double-valve surgery. The aim was to review survival and echocardiographic findings after valvular surgery for CaHD at our institution.METHODS AND RESULTS: Between 1986 and 2019, 60 consecutive patients, median age 64 years, underwent valve surgery for severe CaHD. Operations involved combined tricuspid valve replacement (TVR) and pulmonary valve replacement (PVR) in 42 cases, and TVR-only or TVR with pulmonary valvotomy (no PVR) in 18 patients. All implanted valves were bioprosthetic. Preoperative echocardiography, creatinine, NT-pro-brain natriuretic peptide (NT-pro-BNP), and 24-h urinary 5-hydroxyindoleacetic acid (5-HIAA) were obtained. 30-Day mortality was 12% (n=7), and 8% for the most recent decade 2010-2019. Median survival was 2.2 years and maximum survival 21 years. Patients undergoing combined TVR and PVR had significantly higher survival compared with operations without PVR (median 3.0 vs. 0.9 years, P = 0.02). Preoperative levels of NT-pro-BNP and 5-HIAA in the top quartile predicted poor survival. On preoperative echocardiograms, pulmonary regurgitation was severe in 51% and indeterminate in 17%. Postoperative echocardiography confirmed relatively good durability of bioprostheses, relative to the patients' limited oncological life expectancy.CONCLUSION: Valvular surgery in CaHD has an acceptable perioperative risk. Survival for combined TVR and PVR was significantly higher compared with operations without PVR. Bioprosthetic valve replacement appears to have adequate durability. Preoperative echocardiography may underestimate pulmonary pathology. Combined TVR and PVR should be considered in most patients.
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- Tham, Emma, et al.
(författare)
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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
- 2015
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813.
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Tidskriftsartikel (refereegranskat)abstract
- A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, comparative genome hybridization and homozygosity mapping. All affected patients were shown to have a novel homozygous splice variant NM_024740.2: c.1173+2T>A in the ALG9 gene, encoding alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation. RNA analysis demonstrated skipping of exon 10, leading to shorter RNA. Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a congenital disorder of glycosylation (CDG). Only three liveborn children with ALG9-CDG have been previously reported, all with missense variants. All three suffered from intellectual disability, muscular hypotonia, microcephaly and renal cysts, but none had skeletal dysplasia. Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype. The skeletal features overlap with that previously reported for ALG3- and ALG12-CDG, suggesting that this subset of glycosylation disorders constitutes a new diagnostic group of skeletal dysplasias.European Journal of Human Genetics advance online publication, 13 May 2015; doi:10.1038/ejhg.2015.91.
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